Incidental Mutation 'R6836:Tfeb'
ID 534596
Institutional Source Beutler Lab
Gene Symbol Tfeb
Ensembl Gene ENSMUSG00000023990
Gene Name transcription factor EB
Synonyms Tcfeb, TFEB, bHLHe35
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6836 (G1)
Quality Score 185.009
Status Validated
Chromosome 17
Chromosomal Location 48047962-48103341 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 48097123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024786] [ENSMUST00000086932] [ENSMUST00000113284] [ENSMUST00000113288] [ENSMUST00000125177] [ENSMUST00000126258] [ENSMUST00000130208] [ENSMUST00000137845] [ENSMUST00000141631] [ENSMUST00000146782] [ENSMUST00000159641] [ENSMUST00000160373]
AlphaFold Q9R210
Predicted Effect probably null
Transcript: ENSMUST00000024786
SMART Domains Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
Pfam:MITF_TFEB_C_3_N 63 220 2e-69 PFAM
HLH 299 352 1.44e-15 SMART
Pfam:DUF3371 379 531 1.8e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000086932
SMART Domains Protein: ENSMUSP00000084151
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113284
SMART Domains Protein: ENSMUSP00000108909
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
Pfam:HLH 235 266 1.4e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113288
SMART Domains Protein: ENSMUSP00000108913
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
HLH 240 293 1.44e-15 SMART
Pfam:DUF3371 320 473 7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125177
SMART Domains Protein: ENSMUSP00000121888
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 42 78 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126258
Predicted Effect probably null
Transcript: ENSMUST00000130208
SMART Domains Protein: ENSMUSP00000122228
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137845
Predicted Effect probably null
Transcript: ENSMUST00000141631
SMART Domains Protein: ENSMUSP00000118057
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000146782
SMART Domains Protein: ENSMUSP00000120311
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
HLH 99 152 1.44e-15 SMART
Pfam:DUF3371 179 332 1.1e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159641
SMART Domains Protein: ENSMUSP00000124379
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000160373
SMART Domains Protein: ENSMUSP00000124708
Gene: ENSMUSG00000023990

DomainStartEndE-ValueType
low complexity region 7 43 N/A INTRINSIC
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (62/62)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T C 2: 26,971,718 (GRCm39) M1T probably null Het
Aim2 C G 1: 173,291,546 (GRCm39) T317R probably damaging Het
Alox8 T C 11: 69,077,331 (GRCm39) Y473C probably damaging Het
Alox8 T C 11: 69,080,715 (GRCm39) R209G possibly damaging Het
Asb5 A G 8: 55,038,106 (GRCm39) M210V probably benign Het
Atp2c2 T A 8: 120,461,154 (GRCm39) L249Q probably damaging Het
AU018091 T G 7: 3,213,986 (GRCm39) D77A probably damaging Het
Bahcc1 A T 11: 120,162,583 (GRCm39) K294* probably null Het
Baz2b C T 2: 59,747,769 (GRCm39) R1298Q probably damaging Het
Bivm T A 1: 44,182,296 (GRCm39) N501K possibly damaging Het
Bpifb5 T A 2: 154,069,985 (GRCm39) I145N probably benign Het
Casq2 A T 3: 101,994,076 (GRCm39) N41I probably damaging Het
Ccdc18 T C 5: 108,345,833 (GRCm39) L993P probably damaging Het
Cdcp3 A T 7: 130,798,233 (GRCm39) I81F possibly damaging Het
Cfap44 A G 16: 44,224,442 (GRCm39) D50G probably damaging Het
Clca3a2 T A 3: 144,512,144 (GRCm39) I91F probably damaging Het
Crebbp T A 16: 3,997,886 (GRCm39) H66L possibly damaging Het
Cyfip2 T C 11: 46,163,467 (GRCm39) T321A probably benign Het
Dido1 A G 2: 180,304,100 (GRCm39) V1268A probably benign Het
E030030I06Rik A C 10: 22,024,391 (GRCm39) V174G probably damaging Het
Gm20730 G T 6: 43,058,767 (GRCm39) probably null Het
Gm36176 T C 10: 77,682,976 (GRCm39) probably benign Het
Gper1 T A 5: 139,412,435 (GRCm39) M260K probably damaging Het
Igfbp2 T C 1: 72,888,817 (GRCm39) L89P probably damaging Het
Katnal1 T C 5: 148,830,974 (GRCm39) N200S probably damaging Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Klhl20 T A 1: 160,932,976 (GRCm39) E277D probably benign Het
Lingo1 T C 9: 56,527,056 (GRCm39) Y517C probably damaging Het
Lrrk1 C T 7: 65,992,527 (GRCm39) E82K probably benign Het
Mtor T A 4: 148,573,955 (GRCm39) V1275D possibly damaging Het
Ncan C T 8: 70,552,965 (GRCm39) S1089N possibly damaging Het
Notch4 C T 17: 34,805,074 (GRCm39) T1643I probably damaging Het
Or13a25 A C 7: 140,248,093 (GRCm39) I298L possibly damaging Het
Or1i2 A G 10: 78,448,424 (GRCm39) L17P probably damaging Het
Or2y15 A T 11: 49,350,904 (GRCm39) T133S possibly damaging Het
Or4c10 T C 2: 89,760,683 (GRCm39) C177R probably damaging Het
Pcdhgb6 T C 18: 37,876,015 (GRCm39) V241A probably benign Het
Phf11b T A 14: 59,565,572 (GRCm39) T102S possibly damaging Het
Pkd1 T A 17: 24,800,233 (GRCm39) V2998E probably damaging Het
Ppp1r13b T C 12: 111,801,629 (GRCm39) S352G probably benign Het
Ptprh C T 7: 4,554,134 (GRCm39) V778M probably damaging Het
Ptprz1 C T 6: 23,030,664 (GRCm39) Q1008* probably null Het
Ralgapa1 A T 12: 55,651,058 (GRCm39) probably null Het
Rbm20 G A 19: 53,802,500 (GRCm39) G336E probably damaging Het
Sdsl T C 5: 120,600,167 (GRCm39) I77V probably benign Het
Serpina3b G A 12: 104,100,341 (GRCm39) E308K probably benign Het
Sfrp5 G A 19: 42,190,149 (GRCm39) T101I probably damaging Het
Slc2a13 C T 15: 91,205,835 (GRCm39) V451I probably benign Het
Slc6a9 C T 4: 117,725,083 (GRCm39) A559V possibly damaging Het
Spg11 C T 2: 121,890,016 (GRCm39) A2109T probably damaging Het
Stard9 C T 2: 120,530,324 (GRCm39) R2194C probably benign Het
Tiam2 T A 17: 3,464,655 (GRCm39) I128N probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tpr T G 1: 150,312,424 (GRCm39) probably null Het
Traf3ip1 T C 1: 91,448,722 (GRCm39) I456T probably benign Het
Ttll4 T A 1: 74,728,572 (GRCm39) D892E probably damaging Het
Ubr1 T A 2: 120,727,156 (GRCm39) probably null Het
Vmn2r74 T A 7: 85,606,630 (GRCm39) I239F probably benign Het
Wdfy3 C T 5: 102,100,865 (GRCm39) V251M probably damaging Het
Xylb T A 9: 119,220,820 (GRCm39) L531H probably damaging Het
Zfp960 T A 17: 17,308,434 (GRCm39) C383S probably damaging Het
Other mutations in Tfeb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Tfeb APN 17 48,102,589 (GRCm39) missense probably benign 0.10
IGL03248:Tfeb APN 17 48,097,920 (GRCm39) missense probably benign
IGL03280:Tfeb APN 17 48,096,862 (GRCm39) missense probably benign
FR4304:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
FR4976:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
R0414:Tfeb UTSW 17 48,099,224 (GRCm39) splice site probably null
R1712:Tfeb UTSW 17 48,099,911 (GRCm39) critical splice donor site probably null
R2014:Tfeb UTSW 17 48,102,484 (GRCm39) missense probably damaging 0.97
R2101:Tfeb UTSW 17 48,100,590 (GRCm39) missense probably damaging 1.00
R4283:Tfeb UTSW 17 48,100,699 (GRCm39) missense probably damaging 1.00
R4734:Tfeb UTSW 17 48,096,787 (GRCm39) missense probably benign 0.33
R4785:Tfeb UTSW 17 48,099,152 (GRCm39) splice site probably null
R4948:Tfeb UTSW 17 48,096,904 (GRCm39) missense probably benign 0.00
R5896:Tfeb UTSW 17 48,070,433 (GRCm39) critical splice donor site probably null
R6522:Tfeb UTSW 17 48,100,627 (GRCm39) missense probably damaging 1.00
R6804:Tfeb UTSW 17 48,100,735 (GRCm39) critical splice donor site probably null
R6923:Tfeb UTSW 17 48,097,908 (GRCm39) missense probably benign 0.11
RF002:Tfeb UTSW 17 48,097,027 (GRCm39) small insertion probably benign
RF003:Tfeb UTSW 17 48,099,003 (GRCm39) missense possibly damaging 0.86
RF006:Tfeb UTSW 17 48,097,038 (GRCm39) small insertion probably benign
RF008:Tfeb UTSW 17 48,097,027 (GRCm39) small insertion probably benign
RF010:Tfeb UTSW 17 48,097,032 (GRCm39) small insertion probably benign
RF010:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
RF018:Tfeb UTSW 17 48,097,020 (GRCm39) small insertion probably benign
RF022:Tfeb UTSW 17 48,097,019 (GRCm39) small insertion probably benign
RF025:Tfeb UTSW 17 48,097,013 (GRCm39) small insertion probably benign
RF028:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF030:Tfeb UTSW 17 48,097,038 (GRCm39) small insertion probably benign
RF034:Tfeb UTSW 17 48,097,023 (GRCm39) nonsense probably null
RF034:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF035:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF036:Tfeb UTSW 17 48,097,028 (GRCm39) small insertion probably benign
RF038:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF038:Tfeb UTSW 17 48,097,030 (GRCm39) small insertion probably benign
RF039:Tfeb UTSW 17 48,097,035 (GRCm39) nonsense probably null
RF039:Tfeb UTSW 17 48,097,020 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,036 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,035 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF040:Tfeb UTSW 17 48,097,037 (GRCm39) small insertion probably benign
RF041:Tfeb UTSW 17 48,097,025 (GRCm39) small insertion probably benign
RF042:Tfeb UTSW 17 48,097,022 (GRCm39) small insertion probably benign
RF047:Tfeb UTSW 17 48,097,041 (GRCm39) small insertion probably benign
RF047:Tfeb UTSW 17 48,097,031 (GRCm39) small insertion probably benign
RF053:Tfeb UTSW 17 48,097,039 (GRCm39) small insertion probably benign
RF054:Tfeb UTSW 17 48,097,023 (GRCm39) nonsense probably null
RF060:Tfeb UTSW 17 48,097,031 (GRCm39) small insertion probably benign
RF061:Tfeb UTSW 17 48,097,017 (GRCm39) small insertion probably benign
RF062:Tfeb UTSW 17 48,097,025 (GRCm39) small insertion probably benign
Z1177:Tfeb UTSW 17 48,102,569 (GRCm39) missense possibly damaging 0.74
Z1177:Tfeb UTSW 17 48,097,449 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATACTTCATGGGCCTGTCTCC -3'
(R):5'- TGTTCCCATAGGTCTCAGACAGATAC -3'

Sequencing Primer
(F):5'- AACAGCTGCCATGGCGTC -3'
(R):5'- TAGGTCTCAGACAGATACTCCCG -3'
Posted On 2018-09-12